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Cellosaurus SANi009-A (CVCL_A0JY)

[Text version]

Cell line name SANi009-A
Synonyms PBL.HPS241.cl2; HPS2-90; HPS2 clone 2
Accession CVCL_A0JY
Resource Identification Initiative To cite this cell line use: SANi009-A (RRID:CVCL_A0JY)
Comments From: Sanquin; Amsterdam; Netherlands.
Derived from sampling site: Peripheral blood.
Sequence variations
  • Mutation; HGNC; 566; AP3B1; Simple; p.Lys59fs (c.177delA); ClinVar=VCV000224763; Zygosity=Heterozygous (PubMed=34182253).
  • Mutation; HGNC; 566; AP3B1; Simple; c.1839_1842delTAGA; ClinVar=VCV000224764; Zygosity=Heterozygous (PubMed=34182253).
Disease Hermansky-Pudlak syndrome 2 (NCIt: C150368)
Hermansky-Pudlak syndrome with neutropenia (ORDO: Orphanet_183678)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=34182253; DOI=10.1016/j.scr.2021.102444
Aarts C.E.M., Karampini E., Wust T., Webbers S., Varga E., Geissler J., Voorberg J., von Lindern M., Bierings R., van den Akker E., Kuijpers T.W.
Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1.
Stem Cell Res. 54:102444-102444(2021)

Cross-references
Cell line databases/resources hPSCreg; SANi009-A
Encyclopedic resources Wikidata; Q108821263
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2